peroxisome biogenesis disorder 4A

Summary
Synonym
  • peroxisome biogenesis disorder 4A (Zellweger)
Definition
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.
Super Class
Zellweger syndrome
External Links
Disease Ontology
DOID:0080479
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05093 Steroid 17-alpha-hydroxylase/17,20 lyase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024